Canonical Allele Identifier: CA349117008

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168973733A>T , CM000664.2:g.168973733A>T	GRCh38
NC_000002.11:g.169830243A>T , CM000664.1:g.169830243A>T	GRCh37
NC_000002.10:g.169538489A>T	NCBI36
NG_007374.1:g.62591T>A
NG_007374.2:g.62664T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.1416T>A MANE Select	NP_003733.2:p.Tyr472Ter
ENST00000650372.1:c.1416T>A MANE Select	ENSP00000497931.1:p.Tyr472Ter
NM_003742.2:c.1416T>A	NP_003733.2:p.Tyr472Ter
ENST00000263817.6:c.1416T>A	ENSP00000263817.6:p.Tyr472Ter
XM_006712817.2:c.1458T>A	XP_006712880.1:p.Tyr486Ter
XM_006712817.3:c.1458T>A	XP_006712880.1:p.Tyr486Ter
XM_011512077.1:c.1518T>A	XP_011510379.1:p.Tyr506Ter
XM_011512077.2:c.1518T>A	XP_011510379.1:p.Tyr506Ter
XM_011512078.1:c.1518T>A	XP_011510380.1:p.Tyr506Ter
XM_011512078.2:c.1518T>A	XP_011510380.1:p.Tyr506Ter
XM_011512079.1:c.1518T>A	XP_011510381.1:p.Tyr506Ter
XM_011512080.1:c.1518T>A	XP_011510382.1:p.Tyr506Ter
XM_011512080.2:c.1518T>A	XP_011510382.1:p.Tyr506Ter
XM_017005165.1:c.1518T>A	XP_016860654.1:p.Tyr506Ter
XM_017005166.1:c.747T>A	XP_016860655.1:p.Tyr249Ter
XM_017005167.1:c.201T>A	XP_016860656.1:p.Tyr67Ter